The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

Curr Opin Rheumatol. 2003 Jan;15(1):61-9. doi: 10.1097/00002281-200301000-00011.

Abstract

The authors review the genes, and their respective proteins, responsible for eight autoinflammatory conditions. Familial Mediterranean fever is caused by mutations in pyrin, which is the prototype of a new family of proteins belonging to the death-domain superfamily. This new group of proteins, which regulate apoptosis, inflammation, and cytokine processing, share an approximately 90-amino-acid N-terminal sequence called the PYRIN domain. Mutations in another PYRIN domain protein, termed cryopyrin, are responsible for three clinically defined illnesses, Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and NOMID/CINCA. A related protein encoded by the gene is responsible for the Mendelian disorder, Blau syndrome, and also predisposes to Crohn disease. The gene responsible for PAPA syndrome has recently been identified as, and preliminary results from the authors' laboratory also implicate its protein product in these pathways. Lastly, the authors discuss the broadening genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutations in the 55-kDa receptor for tumor necrosis factor.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Blood Proteins / genetics
  • Carrier Proteins / genetics
  • Cytoskeletal Proteins
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / immunology
  • Humans
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Proteins / genetics
  • Pyrin

Substances

  • Blood Proteins
  • Carrier Proteins
  • Cytoskeletal Proteins
  • MEFV protein, human
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Proteins
  • Pyrin

Associated data

  • OMIM/120100
  • OMIM/142680
  • OMIM/186580
  • OMIM/191900
  • OMIM/249100
  • OMIM/260920
  • OMIM/604416
  • OMIM/607115